Still no diagnosis (long post sorry)

[madlet]

Hi there

I have posted a couple of times but not for some time and I really need some help. My DD2 has gross development delay, she is three years old and is unable to walk. She is just beginning to pull herself up on furniture, so i guess is more like a one year old in development terms. Aside from this there are no other issues. She has just had results back from an MRI scan and more blood tests and these have all come back clear.

I am at my wits end and don't know where to turn to next. She is becoming withdrawn from other children as often she can't join in and I find it heartbreaking to watch.

I am desperate for a diagnosis and am not sure where to turn to next. We are at the hospital this afternoon for an apointment with her general paediatrician and feel we are just being fobbed off because they don't know what to do next.

We are waiting for micro array tests to come back but these seem to take ages. Has anyone got any advice on what else we can ask for?
I almost feel like a fraud because I can't tell people what's wrong and I don't know where to turn. Any help or advice greatfully received.

Thanks

Sx

Hi madlet, sorry you are having such an awful time right now. who are you seeing as well as general paed - are you seeing a neurologist? is she having physio? is her speech/language/communication OK?

Must be really frustrating for you and your DD - sorry you don't have any answers yet. It sounds positive that you are seeing progress with her starting to pull up on furniture - hope you are getting regular physio?

My DD has gross and fine motor difficulties but we know the reason for this (hypoxic brain injury). However I do understand your concerns about her getting left behind her peers and struggling to join in - it is heartbreaking at times. Can she join in in other ways ie sitting and playing?

Really hope you get some answers soon..

Thanks for your messages.

She is having regular physio, which seems to help and we are seeing a motor nuerologist at Alder Hey too (Dr Spinty & Dr Peachy). Aside from her not standing and walking she is fine. Her communication skills, language etc are all really good.

She does join in with other children at pre school but gets upset and scared when they are running around. I hate seeing this.

I am finding it difficult at the minute because I think I always thought it was developmental and it obviously isn't now. We are just beginning to complete DLA forms and get a statement (though I'm not sure what this is yet) and I feel like I have entered a really scary world and I'm not sure which way to go.

Sorry I sound like a whingy child. I just don't know which way to turn and all my husband says is we have to cope with whatever problems she has the best way we can. Whilst I know this is true it doesn't make it any easier.

Sorry I know you can't give me any answers I think I just need to let it out at the moment.

Thanks

S

I had a little tear in my eye reading that. I completely understand how you feel when you say you "hate seeing it". I'm not in the same situation but I do understand having to watch while your child is struggling to fit in. It's terrible I know, but at least we now live in a country where disability is more accepted and recognised. I know it isn't all the time, but 30 years ago so many children would have just been dismissed as 'slow' and not had the same opportunites.

It's good that she is talking normally. I really hope things continue to improve. I'm sure they will. I know 18 months for walking seems to be the cut off point before something is wrong, but i've know several who were much older and who are absolutely fine. The fact that she is trying is very positive. :)

Thanks Miss Nutty, I do try and stay positive I think I'm having a bad couple of days!

I also feel a bit of a fraud as I know people cope with a lot worse than this.

Thanks again

s

hello again. I live a couple of miles from AH, so if you fancy meeting a random stranger for a coffee, message me (I won't be offended if you don't!). My DS's problems were the reverse at 3 - severe language delay but fine with walking/jumping etc, so I haven't had quite the same practical issues, but it is painful for any mother if they feel that their child is struggling with their peers. Hopefully she will continue to progress from pulling up to full blown walking in the near future.

What sort of activities does she enjoy? Just wondering if something more art/craft based might be less scarey for her...

PS = statement is a statement of special educational needs - in these increasingly cash-strapped times it is the best way to guarantee she gets the help she may need in educational setting - e.g physio/OT/1 - 1.

Sorry it took me a while to post back I don't near a computer much at the weekend. I'd love to meet up so I will message you. Thanks for the explanation os statements.

Sx

PS Total chaos - sorry to be an numpty but how do I pm you?

Madlet were to in the dx muddle lots of differnt ones but nothing rely explains it all

Think the microarray takes 6-12 months at leAst was what the genectis told us recentley .have you been seem by wheelchair services know scarey step but it would be step towards giving her Somd independence also has physio talked about walking frames etc ?

Ds3 has a wheelchair and is best thing did he had major for a while but had to rely on being pushed now he can join in

And has not stopped him learning to walk he is now walking independtley at 5 though still needs chair for outdoors and distance but please don't benoit of considering one they soon learn to self propel ds is pretty good now infact just brough him a private lightweight chair as into basketball

Thanks roundthebend. We are just about to see wheelcharir services etc. We avoided it for a while but know we need to do it.

How old was your son when he began to walk. Does he have any other issue?

Hi Madlet, my Ds is 3 and has spastic diplegia cerebral palsy. He is not walking independently but can stand for a few seconds with his splint on.

We saw wheelchair services last week as he is refusing to go in the pushchair now (and will soon be too big anyway) and are now waiting for another appt as he needs a particular seat/chair as his posture is poor when sitting. He seems to be quite excited about getting his wheelchair, it will certainly make my life a little easier.

It must be very hard not having a diagnosis, have they given you any idea at all why she is delayed?

My Ds has had a kaye walker (frame) which was fantastic, but he just uses it to propel himself at speed now! He also has tripod sticks which he uses indoors sometimes. We are just trying theratogs which is a kind of harness/strapping kind thing round his hips and down his left leg, alongside his splint, which has enabled him to start taking steps again (he had started in the summer but then stopped when had a growth spurt).

I can identify with you finding it hard seeing her becoming withdrawn, I have found it hard seeing the gap widen between DS and his peers in terms of his gross motor, and really found it hard going to soft play/ the park/ parties etc with others and Ds wanting to do all they did but not being able to do it on his own.

Ds being at preschool has really helped changed that, he has become more independent and the other kids are fascinated by his walking aids and inability to walk! The structure of preschool (as opposed to toddler group, say) has helped him integrate more effectively and allows the other children to be a bit more considerate of him. Does your Dd go to preschool?

Hi there,

Thanks for your really supportive messages. Yes DD does go to preschool and loves it. Her teachers are fanatstic with her and the other children really try and look after her.

We will push on with the wheelchair request. I have avoided it but now know that it's unavoidable!

What activities do you take your ds too?

We go to some toddler groups which he enjoys but is hard work for me as have to be constantly helping him and monitoring my v active 9m old Ds, same with soft play really. We swim alot which is good physio for him but can only do with 2 adults. At the moment I tend to see friends with kids at home (or at their homes) as he seems to get alot from 1-1 with another child and it is easier to manage with the ages/stages both Ds's are at.

What sort of things do you do? I am thinking about horseriding for Ds in the future.

My husband is a Stay at home dad so he's responsible for Monday - Friday activities. She goes to pre school 4 mornings a week, swimming once a week and then at home does lots of craft based activities which she loves.

She loves dancing and continually asks about going to ballet but it just wouldn't be suitable.

I'm really keen to do horseriding too. Maybe something that I enquire about soon.

I really feel for you. I hope you don't mind me joining in as my DS also 3, is very very able physically and mentally - but has the language of a 1 year old No one has ever seen anyone like him they keep telling me, the funny noises he makes etc and the very little progress.

I guess i just wanted to sympathise with that feeling really - of no one knowing what the problem is and people saying oh don't worry it'll all be fine, then before you know it they're 3 and no bloody different.

Like I say, I don't have the same issue but hope you don't mind me joining in. DS will be/has been tested for all sorts and you end up feeling like such a failure and so alone

Have you considered visiting some local ballet classes and seeing what the provision is like? There just might be something that could be adapted/adjusted so she could access it? Maybe a very small group or one to one lessons?

Hi Maxybrown

You are more than welcome to join in. It;s nice to know that you're not alone in feeling this way. The non diagnosis is so difficult.

Good idea verycherry. I may speak to DD1's ballet teacher and see if she will do 121 tuition. I am also going to check out horse riding this weekend!

Thanks to all of you for your support. onwards and upwards!!

Sxxx

hello all. madlet - might be worth trying babyballet, I have heard of them running classes for surestart, so hopefully they will be a bit less ahem precious than the typical ballet school. (apologies if you have the world's most chilled ballet teacher for DD1!)

re:riding - would you consider looking into rda (riding for the disabled) www.rda.org.uk

maxy - was in a very similar position with my DS at 3, he was severely language delayed. It is v. isolating. Trying to think of any words of wisdom - first and mainly - speech and language problems in children are more common than you think - about 1 in 10 - obviously this includes the more minor pronunication problems - but basically s/l delayed kids are out there locally, just that us parents tend to go into our shell a bit, so you become less likely to find someone going through the same. MN was a lifeline to me at this stage - but finding people within meetup distance in a similar distance is v. useful - so you have someone similar to have common ground with.#

there are charities in england for speech/lang problems, but I dont know how many local groups there are - s/l parents don't seem as well organised as parents to kids with ASD in terms of support groups etc.

oh - adult stuff and friends are vital in keeping you sane - I found my friends without children were surprisingly good- as they would not try and fob me off at all, but would respect my concerns, and encourage me in seeking appropriate professional help for DS.

Thanks Totalchaos - good advice.

We certainly don;t have the most chilled out ballet teacher so baby ballet may be the way forward. I'll look it up. (what did we do before the internet)

I'm not sure wether she is too young for riding yet - we went to look at the horses on a local field on Saturday and she didn't really like it. May be one for the future.

madlet - there are loads of parents on special kids in the uk who have children with specific dx - and some that finally got dx around 11/ 13 yo when better genetic testing was done (huge waiting lists etc) - you might get some good support there, and they do organise regular meet-ups and some great activities for kids with all sorts of disabilities - maybe have a look?

it is soooooo frustrating having no dx, but the important thing is that she is getting the therapy she needs and the support she needs, regardless of the label itself - our paed always said 'but even with a dx, nothing will change in terms of what we are doing'...

dd2 does have a dx (she has cp) but we have known many children who don't, some of which probably never will. it's really hard - but over time you do come to terms with it, i think. in your case, she is still tiny though, and hopefully the micro-array will show something that will give you an answer to the why.

dd2 loves ballet though (she couldn't walk when she started) a good teacher is a godsend - it took us a year to find one, but was so worth it. she's also only just come round to the idea of horses now - she's 7

does she have a standing frame for nursery? this was an important step for dd2 (no pun intended) as it allowed her to stand at a table and join in with tasks with the other children. she then progressed on to a walking frame etc.